Mutagenetix > Incidental Mutation

Incidental Mutation 'R9322:Med4'

706283

Institutional Source

Beutler Lab

Gene Symbol

Med4

Ensembl Gene

ENSMUSG00000022109

Gene Name

mediator complex subunit 4

Synonyms

DRIP36, MED4, HSPC126, 2410046H15Rik, TRAP36, Vdrip, p36 TRAP/SMCC/PC2 subunit

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R9322 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73747489-73755985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73747601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 34 (L34P)

Ref Sequence

ENSEMBL: ENSMUSP00000022705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022705]

AlphaFold

Q9CQA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000022705
AA Change: L34P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000022705
Gene: ENSMUSG00000022109
AA Change: L34P

Domain	Start	End	E-Value	Type
Pfam:Med4	63	206	7.8e-34	PFAM
low complexity region	259	270	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the Mediator complex. The Mediator complex interacts with DNA-binding gene-specific transcription factors to modulate transcription by RNA polymerase II. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,192,331 (GRCm39)	V727A	probably damaging	Het
Arhgef33	T	A	17: 80,677,818 (GRCm39)	L455*	probably null	Het
Arnt	T	C	3: 95,397,929 (GRCm39)	S591P	probably benign	Het
Asic4	A	G	1: 75,446,462 (GRCm39)	M335V	probably benign	Het
Atp1a2	A	G	1: 172,107,625 (GRCm39)	S665P	possibly damaging	Het
Cat	T	C	2: 103,303,333 (GRCm39)	N148S	probably damaging	Het
Ccdc121rt3	T	A	5: 112,503,272 (GRCm39)	Y144F	probably damaging	Het
Ccdc9	T	C	7: 16,012,360 (GRCm39)	D274G	probably damaging	Het
Ciao3	G	C	17: 25,998,548 (GRCm39)	Q217H	probably damaging	Het
Csnk1g2	T	C	10: 80,474,978 (GRCm39)	Y332H	probably damaging	Het
Csrnp1	T	C	9: 119,801,853 (GRCm39)	E402G	probably damaging	Het
Dchs2	T	A	3: 83,189,001 (GRCm39)	I1455N	possibly damaging	Het
Dnah12	A	T	14: 26,492,934 (GRCm39)	I1232F	possibly damaging	Het
Dsn1	C	T	2: 156,843,669 (GRCm39)	V144I	possibly damaging	Het
Efcab3	A	T	11: 104,765,199 (GRCm39)	E2501V	probably benign	Het
Epha6	A	T	16: 60,245,118 (GRCm39)	S360R	probably damaging	Het
Fasl	A	T	1: 161,609,512 (GRCm39)	L158Q	probably damaging	Het
Filip1	A	T	9: 79,727,014 (GRCm39)	V535E	probably benign	Het
Fmo5	A	T	3: 97,546,190 (GRCm39)	K168*	probably null	Het
Gm5157	T	G	7: 20,919,431 (GRCm39)	K37N	probably benign	Het
Grm8	T	A	6: 27,363,728 (GRCm39)	I596F	possibly damaging	Het
Il23a	T	C	10: 128,132,990 (GRCm39)	E123G	probably benign	Het
Itpr2	T	C	6: 146,226,587 (GRCm39)	T1386A	probably benign	Het
Krt79	T	A	15: 101,840,245 (GRCm39)	Q317L	possibly damaging	Het
Lhx4	A	G	1: 155,578,353 (GRCm39)	I263T	probably benign	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Mief2	A	T	11: 60,621,844 (GRCm39)	H138L	possibly damaging	Het
Nat3	A	T	8: 68,000,162 (GRCm39)	K14*	probably null	Het
Nbeal1	T	A	1: 60,297,818 (GRCm39)	I1216N	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,118 (GRCm39)	E461G	probably benign	Het
Or11h23	C	A	14: 50,948,507 (GRCm39)	T240N	probably damaging	Het
Or5aq7	T	C	2: 86,938,561 (GRCm39)	T57A	probably damaging	Het
Or5p4	C	T	7: 107,680,727 (GRCm39)	T242M	probably damaging	Het
Pdha2	C	A	3: 140,916,550 (GRCm39)	M319I	probably benign	Het
Pik3r2	A	G	8: 71,227,494 (GRCm39)	V43A	possibly damaging	Het
Psd	T	A	19: 46,301,880 (GRCm39)	E902V	probably damaging	Het
Psme3	A	C	11: 101,211,437 (GRCm39)	H198P	probably damaging	Het
Rlbp1	T	C	7: 79,027,003 (GRCm39)	D219G	possibly damaging	Het
Scn1b	C	A	7: 30,824,517 (GRCm39)	W57L	probably damaging	Het
Sfrp2	T	C	3: 83,674,006 (GRCm39)	I53T	probably damaging	Het
Skic2	T	C	17: 35,066,439 (GRCm39)		probably null	Het
Slc18a3	A	G	14: 32,185,282 (GRCm39)	I367T	probably benign	Het
Slc44a2	A	T	9: 21,258,246 (GRCm39)	R499W	probably damaging	Het
St18	A	G	1: 6,865,747 (GRCm39)	D75G	probably benign	Het
Trim67	C	A	8: 125,549,967 (GRCm39)	Y532*	probably null	Het
Ttc16	C	T	2: 32,664,952 (GRCm39)		probably benign	Het
Usp7	A	T	16: 8,517,124 (GRCm39)	S487T	probably damaging	Het
Vmn2r104	T	C	17: 20,263,087 (GRCm39)	T125A	probably benign	Het
Vmn2r70	T	C	7: 85,208,498 (GRCm39)	T660A	possibly damaging	Het
Zer1	A	T	2: 30,000,923 (GRCm39)	V166D	probably benign	Het

Other mutations in Med4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:Med4	APN	14	73,754,707 (GRCm39)	missense	probably damaging	1.00
IGL02728:Med4	APN	14	73,755,415 (GRCm39)	missense	possibly damaging	0.87
IGL02964:Med4	APN	14	73,755,361 (GRCm39)	missense	probably damaging	0.98
R0718:Med4	UTSW	14	73,754,097 (GRCm39)	missense	probably damaging	1.00
R2131:Med4	UTSW	14	73,755,436 (GRCm39)	missense	possibly damaging	0.82
R2156:Med4	UTSW	14	73,755,472 (GRCm39)	unclassified	probably benign
R2320:Med4	UTSW	14	73,755,373 (GRCm39)	missense	possibly damaging	0.86
R4454:Med4	UTSW	14	73,755,502 (GRCm39)	unclassified	probably benign
R5361:Med4	UTSW	14	73,747,553 (GRCm39)	nonsense	probably null
R6419:Med4	UTSW	14	73,751,363 (GRCm39)	missense	probably damaging	1.00
R8461:Med4	UTSW	14	73,755,468 (GRCm39)	missense	unknown
R8724:Med4	UTSW	14	73,751,249 (GRCm39)	nonsense	probably null
R9172:Med4	UTSW	14	73,751,365 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTAGAACTGTAGTGCACCTC -3'
(R):5'- TGACTGAGATGTCCCCTTGG -3'

Sequencing Primer
(F):5'- GTAGTGCACCTCCAGGCACATAG -3'
(R):5'- CCTTGGCGGGGAAATGC -3'

Posted On

2022-04-18